ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.754+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092642 SCV001249250 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV001204062 SCV001375250 pathogenic Neuronal ceroid lipofuscinosis 7 2019-06-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the MFSD8 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Variants that disrupt this splice site have been observed in unrelated individuals affected with variant late-infantile neuronal ceroid lipofuscinosis (vLINCL) and have been observed to segregate with vLINCL in an affected family (PMID: 21990111, 19201763, 17564970). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MFSD8 are known to be pathogenic (PMID: 19177532, 25227500, 28586915). For these reasons, this variant has been classified as Pathogenic.

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